Noonan syndrome, a developmental disorder characterized by congenital heart defects,
reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional …

Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, and CFCS) are developmental
disorders with overlapping features including distinctive facial dysmorphia, reduced …

Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed
technique able to evidence variations in the copy number of several human genes. Due to this …

The correlation between epigenetics and human reproduction represents a very interesting
field of study, mainly due to the possible transgenerational effects related to epigenetic …

BACKGROUND: This study analyses the prevalence of karyotype changes and Yq11
microdeletions among couples referred for assisted reproduction techniques. METHODS: Prior to …

Gestational Diabetes Mellitus (GDM) is the most common metabolic condition during pregnancy
and may result in short- and long-term complications for both mother and offspring. The …

Cleft of the lip with or without cleft palate (CL/P) represents one of the commonest congenital
malformations in Western countries. Based on their association with specific malformative …

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused in
the majority of cases by deletions of the DMD gene and are readily detectable in affected …

Stem cells isolated from amniotic fluid are known to be able to differentiate into different
cells types, thus being considered as a powerful tool for cellular therapy of different human …

Ectodermal dysplasias form a large disease family with more than 200 members. The
combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic …